Gene Gene information from NCBI Gene database.
Entrez ID 10492
Gene name Synaptotagmin binding cytoplasmic RNA interacting protein
Gene symbol SYNCRIP
Synonyms (NCBI Gene)
GRY-RBPGRYRBPHNRNPQHNRPQ1NSAP1PP68hnRNP-Q
Chromosome 6
Chromosome location 6q14.3
Summary This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of
miRNA miRNA information provided by mirtarbase database.
719
miRTarBase ID miRNA Experiments Reference
MIRT019684 hsa-miR-375 Microarray 20215506
MIRT026132 hsa-miR-192-5p Microarray 19074876
MIRT028770 hsa-miR-26b-5p Microarray 19088304
MIRT049985 hsa-miR-29a-3p CLASH 23622248
MIRT043586 hsa-miR-148b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616686 16918 ENSG00000135316
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60506
Protein name Heterogeneous nuclear ribonucleoprotein Q (hnRNP Q) (Glycine- and tyrosine-rich RNA-binding protein) (GRY-RBP) (NS1-associated protein 1) (Synaptotagmin-binding, cytoplasmic RNA-interacting protein)
Protein function Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing i
PDB 2DGU , 2MXT , 2NBB , 6KOR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18360 hnRNP_Q_AcD 34 103 Heterogeneous nuclear ribonucleoprotein Q acidic domain Domain
PF00076 RRM_1 164 232 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 245 312 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 340 402 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Detected in heart, brain, pancreas, placenta, spleen, lung, liver, skeletal muscle, kidney, thymus, prostate, uterus, small intestine, colon, peripheral blood and testis. {ECO:0000269|PubMed:11352648}.
Sequence
MATEHVNGNGTEEPMDTTSAVIHSENFQTLLDAGLPQKVAEKLDEIYVAGLVAHSDLDER
AIEALKEFNEDGALAVLQQFKDSDLSHVQNKSAFLCGVMKTYR
QREKQGTKVADSSKGPD
EAKIKALLERTGYTLDVTTGQRKYGGPPPDSVYSGQQPSVGTEIFVGKIPRDLFEDELVP
LFEKAGPIWDLRLMMDPLTGLNRGYAFVTFCTKEAAQEAVKLYNNHEIRSGK
HIGVCISV
ANNRLFVGSIPKSKTKEQILEEFSKVTEGLTDVILYHQPDDKKKNRGFCFLEYEDHKTAA
QARRRLMSGKVK
VWGNVGTVEWADPIEDPDPEVMAKVKVLFVRNLANTVTEEILEKAFSQ
FGKLERVKKLKDYAFIHFDERDGAVKAMEEMNGKDLEGENIE
IVFAKPPDQKRKERKAQR
QAAKNQMYDDYYYYGPPHMPPPTRGRGRGGRGGYGYPPDYYGYEDYYDYYGYDYHNYRGG
YEDPYYGYEDFQVGARGRGGRGARGAAPSRGRGAAPPRGRAGYSQRGGPGSARGVRGARG
GAQQQRGRGVRGARGGRGGNVGGKRKADGYNQPDSKRRQTNNQNWGSQPIAQQPLQGGDH
SGNYGYKSENQEFYQDTFGQQWK
Sequence length 623
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
SYNCRIP-associated neurodevelopmental disorder Likely pathogenic rs2537968823 RCV003322729
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder association ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEUKEMIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Undifferentiated Leukemia Leukemia BEFREE 28436985
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29134320 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 30198906 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 30504930 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 29904178, 30504930 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33495416 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome BEFREE 27789276
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19137262 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 29904178 Associate
★☆☆☆☆
Found in Text Mining only
Frontotemporal dementia Frontotemporal dementia BEFREE 30755280
★☆☆☆☆
Found in Text Mining only